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Echo Unmapped VID Investigation [VS-1671] #9202

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mcovarr committed Jun 7, 2025
commit deca4a0f8daf9c8c1c74eb0c74b3d3e562e0f60b
Original file line number Diff line number Diff line change
Expand Up @@ -5,8 +5,9 @@
The working hypothesis behind this investigation was that the orphaned "pseudo vids" that did not correspond to entries
in the GVS `alt_allele` or `filter_set_info` tables existed somewhere in synonymous but non-left aligned form in these tables.
As part of the VAT making process it became necessary to insert a left alignment step when Nirvana complained about
non-left aligned inputs, suggesting the variant representations in GVS tables were not left-aligned. The goal of this
analysis was to confirm (or refute) this hypothesis and if confirmed, identify the source(s) of non-left aligned representations.
non-left aligned inputs, suggesting at least some of the variant representations in GVS tables were not left-aligned.
The goal of this analysis was to confirm (or refute) this hypothesis and if confirmed, identify the source(s) of
non-left aligned representations.

All analysis described below was done in a Terra notebook terminal within the AoU security perimeter.

Expand Down Expand Up @@ -77,7 +78,9 @@ This returns:
2-15219938-C-CTATA
```

Which is the VID we were looking for. Now
Which is the VID we were looking for. Now download the input reblocked gVCF and the unreblocked gVCF from which it was made
and see how the data appears there:

```shell
# From our findings above
gvs_vid="2-15219939-T-TATAT"
Expand Down Expand Up @@ -124,6 +127,7 @@ Now look in these files using queries similar to the ones we ran before against
reblocked gVCF that is the actual input to GVS:

```shell
download_gvcfs
search_reblocked_gvcf
```

Expand Down
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